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8. Role for the Wilms Tumor Gene in Genital Development?

Author

Van Heyningen, V., Bickmore, W. A., Seawright, A., Fletcher, J. M., Maule, J., Fekete, G., Gessler, M., Bruns, G. A. P., Huerre-Jeanpierre, C., Junien, C., Williams, B. R. G., and Hastie, N. D.

Published
1990

11. Meta-analysis of genome-wide DNA methylation and integrative omics of age in human skeletal muscle

Author

Voisin, S, Jacques, M, Landen, S, Harvey, NR, Haupt, LM, Griffiths, LR, Gancheva, S, Ouni, M, Jähnert, M, Ashton, KJ, Coffey, VG, Thompson, JLM, Doering, TM, Gabory, A, Junien, C, Caiazzo, R, Verkindt, H, Raverdy, V, Pattou, F, Froguel, P, Craig, Jeffrey M, Blocquiaux, S, Thomis, M, Sharples, AP, Schürmann, A, Roden, M, Horvath, S, Eynon, N, Voisin, S, Jacques, M, Landen, S, Harvey, NR, Haupt, LM, Griffiths, LR, Gancheva, S, Ouni, M, Jähnert, M, Ashton, KJ, Coffey, VG, Thompson, JLM, Doering, TM, Gabory, A, Junien, C, Caiazzo, R, Verkindt, H, Raverdy, V, Pattou, F, Froguel, P, Craig, Jeffrey M, Blocquiaux, S, Thomis, M, Sharples, AP, Schürmann, A, Roden, M, Horvath, S, and Eynon, N

Published
2021

13. Child Health, Developmental Plasticity, and Epigenetic Programming

Author

Hochberg, Z., Feil, R., Constancia, M., Fraga, M., Junien, C., Carel, J.-C., Boileau, P., Le Bouc, Y., Deal, C. L., Lillycrop, K., Scharfmann, R., Sheppard, A., Skinner, M., Szyf, M., Waterland, R. A., Waxman, D. J., Whitelaw, E., Ong, K., and Albertsson-Wikland, K.

Published
2011

15. Meta-analysis of genome-wide DNA methylation and integrative OMICs in human skeletal muscle

Author

Voisin, S, primary, Jacques, M, additional, Landen, S, additional, Harvey, NR, additional, Haupt, LM, additional, Griffiths, LR, additional, Gancheva, S, additional, Ouni, M, additional, Jähnert, M, additional, Ashton, KJ, additional, Coffey, VG, additional, Thompson, JM, additional, Doering, TM, additional, Gabory, A, additional, Junien, C, additional, Caiazzo, R, additional, Verkindt, H, additional, Raverdy, V, additional, Pattou, F, additional, Froguel, P, additional, Craig, JM, additional, Blocquiaux, S, additional, Thomis, M, additional, Sharples, AP, additional, Schürmann, A, additional, Roden, M, additional, Horvath, S, additional, and Eynon, N, additional

Published
2020
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19. Identification of constitutional MT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

Author

Jeanpierre, C., Denamur, E., Henry I., Cabanis, J.-O., Luce, S., Cecille, A., Elion, J., Peuchmaur, M., Loirat, C., Niaudet, P., Gubler, M.-C., and Junien, C.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Genetics, Databases -- Usage, Genitourinary organs -- Abnormalities, Hermaphroditism -- Genetic aspects, Nephroblastoma -- Genetic aspects, Biological sciences
Abstract

Constitutional MT1 mutations have been found in patients with isolated diffuse mesangial sclerosis (DMA) or Denys-Drash syndrome. A computerized mutation database has been used for analysis of correlations of genotypes and phenotypes. A series of 24 patients was analyzed. Ten had isolated DMS (IDMS), ten had DDS, and 4 had urogenital abnormalities and/or Wilms tumor (WT). WT1 heterozygous mutations were found in 16 patients, of whom four presented with IDMS.

Published
1998

21. Congenital hyperinsulinism and mosaic abnormalities of the ploidy

Author

Giurgea, I, Sanlaville, D, Fournet, J-C, Sempoux, C, Bellanné-Chantelot, C, Touati, G, Hubert, L, Groos, M-S, Brunelle, F, Rahier, J, Henquin, J-C, Dunne, M J, Jaubert, F, Robert, J-J, Nihoul-Fékété, C, Vekemans, M, Junien, C, and de Lonlay, P

Published
2006

33. Abstracts of Selected Posters

Author

Albanese, R., Antoine, J. L., Dutrillaux, B., Ashley, T., Avivi, L., Kariv, I., Barigozzi, C., Baratelli, L., Profeta, S., Bartram, C. R., de Klein, A., Hagemeijer, A., Grosveld, G., Bootsma, D., Bennett, Michael D., Smith, J. B., Ward, J. P., Heslop-Harrison, J. S., Blin, N., Kopun, M., Buys, C. H. C. M., Koerts, T., van der Veen, A. Y., de Leij, L., Civitelli, M. V., Capanna, E., Couturier, J., Arnason, U., Mandahl, N., Créau-Goldberg, N., Turleau, C., Cochet, C., de Grouchy, J., Dietrich, A. J. J., Delhanty, J. D. A., Mazzullo, H. A., Cooke, H. M. G., Dotan, A., Dresser, M. E., Moses, M. J., Evans, E. P., Burgoyne, P. B., Ferraro, M., Lavia, P., Fonatsch, C., Kirchner, H. H., Pajunk, A., Schaadt, M., Burrichter, H., Diehl, V., Ford, J. H., Roberts, C. G., Friebe, B., Vogel, R., Friedländer, M., Gamperl, R., Amtmann, E., Pfister, H., Gebhart, E., Wagner, H., Goetz, P., Chandley, A. C., Speed, R. M., Goyanes, V. J., Schvartzman, J. B., Graeven, U., Weh, H. J., Hossfeld, D. K., Greenblatt, I. M., Gripenberg, U., Söderlund, V., Wahlberg, C., Blomqvist, L., Guichaoua, M. R., Delafontaine, D., Taillemite, J. L., Luciani, J. M., Naaf, T., Grunert, D., Schmid, M., Hameister, H., Sperling, K., Hamers, A., Jongbloet, P., Peeters, G., Geraedts, J., Hartley-Asp, B., Heneen, W. K., Hens, L., Kirsch-Volders, M., Susanne, C., Herbst, E. W., Winking, H., Claussen, C. P., Putz, B., Sellin, D., Kolbus, U., Gropp, A., Bennett, M. D., Heyting, C., Koperdraad, F., Redeker, E. J. W., Holmquist, G., Goldman, M., Jaworska, Halina, Johannisson, R., Kerem, B., Goitein, R., Richier, C., Marcus, M., Cedar, H., Koch, H., Hoehn, H., Kubbies, Manfred, Rabinovitch, Peter S., Kunz, W., Franz, G., Lacadena, J. R., Cermeno, M. C., Orellana, J., Santos, J. L., Lemeunier, F., Derbin, C., Lin, C. C., Hoar, D. I., Hoo, J. J., Macgregor, H. C., Sims, S., Horner, H. A., Pellatt, P., Mackay, J. M., Fox, D. P., Brunt, P. W., Johnston, A. W., Magenis, R. E., Chamberlin, J., Allen, L., Tomar, D., Olson, S., Donlon, T., Marlekaj, P., Balcini, A., Fantoni, A., de Capoa, A., Martinsson, T., Dahllöf, B., Levan, G., Matsukuma, S., Utakoji, T., del Mazo, J., Avila, J., Miller, D. A., Feinstein, S. I., Miller, O. J., Morita, T., Delarbre, C., Gachelin, G., Kourilsky, P., Moritz, K., Moriwaki, K., Miyashita, N., Imai, H. T., Wang, C. H., Bonhomme, F., Murer-Orlando, M., Peterson, A. C., Neitzel, H., Bogenberger, J., Fittler, F., Gaenge, M., Schulze, C., Nietzel, H., Nürnberger, F., Höhn, H., van Ommen, G. J. B., Baas, F., Arnberg, A. C., Pearson, P. L., De Vijilder, J. J. M., Bakker, E., Hofker, M., Wapenaar, M. C., Parrington, J. M., West, L. F., Povey, S., Pasquali, F., Casalone, R., Bernasconi, P., Paul, J., Froster-Iskenius, U., Schwinger, E., Moje, W., Pearson, P. O., Beverstock, G. C., Veenema, H., v.d Kamp, J. J., Petitpierre, E., Philip, J., Lundsteen, C., van der Ploeg, M., van Prooijen-Knegt, A. C., Bauman, J. G. J., van Duijn, P., Puertas, M. J., de la Pena, A., Estades, B., Merino, F., Rao, S. R. V., Vasantha, K., Thelma, B. K., Juyal, R. C., Jhanwar, S. C., Ratomponirina, Ch, Hamilton, A., Rumpler, Y., Moses, M., Raveh, D., Ben-Zeoev, A., Redi, C. A., Garagna, S., Italy, C. N. R., Robert-Nicoud, M., Streichhan, I., Möhr, E., Westermann, R., Grossbach, U., Sandberg, P., Levan, A., Schäfer, Mireille, Schempp, W., Scheres, J. M. J. C., Hustinx, T. W. J., Holdrinet, R. S. G., Tice, R. R., Schwarzacher, T., Finch, R. A., Searle, J. B., Sharma, T., Sen, S., Cheong, N., Siebert, E., Loidl, J., Slater, R. M., de Kraker, J., Voute, P. A., Delemarre, J. F. M., Smeets, D. F. C. M., Smits, A. P. T., Solleder, E., Inglin, B., Geile, B., Somssich, I., Schwarz, E., Speit, G., Mehnert, K., Vogel, W., Stahl, A., Hartung, M., Devictor, M., Guichaoua, M., Stoll, C., Roth, M.-P., Dott, B., Tabor, A., Madsen, M., Tommerup, N., Traut, W., Chavin-Colin, F., Junien, C., Vekemans, M., Esseltine, D., Venegas, W., Lasne, Cl, Chouroulinkov, I., Vidal, F., Navarro, J., Templado, C., Egozcue, J., Viegas-Péquignot, E., Malfoy, B., Taillandier, E., Leng, M., Viinikka, Y., Spielmann, H., Boldin, S., Volobouev, V. T., Webb, G. C., Krumins, E., Wegner, R.-D., Lüdtke, E.-L., Weith, A., Westerman, M., Thomson, R., Sinclair, A., Yacobi, Y. Z., Feldman, M., Yoon, J. S., Bennett, M. D., editor, Gropp, A., editor, and Wolf, U., editor

Published
1984
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34. Uniparental paternal disomy in a genetic cancer-predisposing syndrome

Author

Henry, I., Bonaiti-Pellie, C., Chehensse, V., Beldjord, C., Schwartz, C., Utermann, G., and Junien, C.

Subjects
Human chromosome abnormalities -- Physiological aspects, Beckwith-Wiedemann syndrome -- Genetic aspects, Gigantism -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

A region of chromosome 11 in humans contains the genetic defect involved in the development of the overgrowth syndrome known as Beckwith-Wiedemann syndrome (BWS). Although there are many clinical forms of BWS, the symptoms of BWS include gigantism and low levels of blood sugar. Some patients also develop embryonic tumors, such as Wilms' tumor. Certain genetic sequences from chromosome 11 were used as markers to study the inheritance of regions of chromosome 11 in eight patients with BWS. It was shown that the infants inherited two copies of genetic information on chromosome 11 from their fathers. This is unusual and is called paternal disomy and maternal deficiency. One copy of a gene is usually inherited from the mother and one from the father. Using these chromosomal markers, paternal disomy was also suggested in 21 other BWS patients. Therefore, this unusual genetic inheritance of information from the fathers appears to be associated with the development of BWS. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

35. The new paradigm of the developmental origin of health and diseases (DOHaD) - Epigenetics and environment: evidence and missing links

Author

Junien, C., Panchenko, P., Pirola, Luciano, Amarger, V., Kaeffer, B., Parnet, P., Torrisani, J., Bolanos Jimenez, F., Jammes, Hélène, Gabory, Anne, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Institut National de la Recherche Agronomique (INRA)

Subjects
Health, Pregnancy, Prenatal Exposure Delayed Effects, [SDV]Life Sciences [q-bio], Humans, Disease, Female, Gene-Environment Interaction, Disease Susceptibility, Environment, Epigenesis, Genetic
Abstract

International audience; According to the new paradigm of the Developpemental Origins of Health and Disease (DOHaD), the environmental factors to which an individual is exposed throughout his life can leave an epigenetic footprint on the genome. A crucial period is the early development, where the epigenome is particularly sensitive to the effects of the environment, and during which the individual builds up his health capital that will enable him to respond more or less well to the vagaries of life. The research challenge is to decipher the modes of action and the epigenetic mechanisms put into play by environmental factors that lead to increased disease susceptibility or resilience. The challenge for health is to translate these scientific discoveries into action through, among others, the establishment of preventive recommendations to slow down the growing incidence of non communicable diseases.

Published
2016
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38. New update of the FBN1 mutation database

Author

Collod-Beroud, G., Le Bourdeles, S., Dehaupas, I., Grey, S., Junien, C., Beroud, C., and Boileau, C.

Subjects
Human genetics -- Research, Gene mutations -- Information management, Phenotype -- Information management, Biological sciences
Published
2001

45. Software and database for the analysis of mutations in the human WT1 gene

Author

Jeanpierre, C, Béroud, C, Niaudet, P, and Junien, C

Subjects
Male, Genes, Wilms Tumor, Databases, Factual, DNA Mutational Analysis, Zinc Fingers, DNA-Binding Proteins, Computer Communication Networks, Mutation, Genetics, Humans, Female, WT1 Proteins, Software, Research Article, Transcription Factors
Abstract

The WT1 gene, located at 11p13, encodes a zinc finger transcription factor involved in renal and gonadal development and in Wilms' tumor. Constitutional mutations of this gene have been described in most patients with Denys Drash syndrome (mesangial sclerosis associated with male pseudohermaphrodism and/or Wilms' tumor), but also in patients with genitourinary abnormalities and Wilms' tumor (WT) or presenting with only unilateral or bilateral WT. Moreover, approximately 10% of Wilms' tumors carry WT1 mutations at the somatic level. To facilitate the genotype-phenotype correlation analyses, we have created a software package along with a computerized database of germline (70 entries) and somatic (28 entries) mutations reported in the literature.

Published
1998
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